New mutation density calculation: closes #272#338
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FerriolCalvet
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All looks good, I have this specific question about the 0s in the depths vector which I don't fully wrap my head around.
On the side I branched the PR for the integration of your python script to the definitions of utils in deepCSA, but let's first address all the comments here and then we can take care of the merging later.
* connect mut_density with pipeline's utils * apply changes from PR #338
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functional tests passed, but there are a couple of things to be discussed:
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- mutdensityadj contains new mutation density results -mutdensity keeps having the old computation
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Pull Request Overview
This PR implements a new mutability-adjusted mutation density calculation feature that addresses issue #272. The feature calculates mutation densities adjusted for trinucleotide-context-specific mutabilities and generates both tabular outputs and visualization plots comparing adjusted vs flat mutation densities.
- Adds a new mutation density workflow that incorporates trinucleotide context mutability adjustments
- Integrates the new feature into the main DeepCSA workflow with conditional execution
- Creates output files including TSV data files and PDF heatmap plots for log fold change analysis
Reviewed Changes
Copilot reviewed 4 out of 8 changed files in this pull request and generated 2 comments.
| File | Description |
|---|---|
| workflows/deepcsa.nf | Integrates the new mutability-adjusted mutation density workflow into the main pipeline |
| subworkflows/local/mut_density/main.nf | Defines the new mutation density subworkflow with mutability adjustments |
| modules/local/mut_density/main.nf | Implements the core mutation density calculation process module |
| conf/tools/mutdensity.config | Adds configuration for the new mutation density subset filtering process |
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Calculation of mutation density adjusted for the trinucleotide-context-specific mutabilities (mutability-adjusted, for short) at the set of predefined consequence types discussed in #272. The calculation produces two types of outputs:
$OUTPUT/mutdensity/<sample_id>.mutdenisities.tsv, comprising the mutation density values for each gene and consequence type;$OUTPUT/mutdensity/<sample_id>.logfoldchangeplot.pdf, representing the log2 fold change of the mutability-adjusted mutation density vs the flat mutation density where each trinucleotide is assumed to have the same mutability.This PR should be considered a first usable version subject to minimal testing with which we can start to survey more broadly across all cohorts and samples. Possible adjustments in future versions may include:
Ways in which this new feature may be used to improve other features of the pipeline: